EPB41L3 — 161 ClinVar variants

All ClinVar germline EPB41L3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

6 Benign · 1 Benign/Likely benign · 8 Likely benign · 146 Uncertain significance

Full EPB41L3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 112

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 30

The independent predictors disagree with each other — read with care.

All EPB41L3 variants

Benign 6

p.Arg924Cys Multiple submitters
p.Asn680Ser Multiple submitters
p.Leu759= Multiple submitters
p.Pro36Gln Multiple submitters
p.Pro522= Multiple submitters
p.Ser832Ala Multiple submitters

Benign/Likely benign 1

p.Glu859Gln Multiple submitters

Likely benign 8

p.Arg498Gln Multiple submitters ⚠
p.Ala874Val Single submitter
p.Arg862His Single submitter ⚠
p.Gln42Pro Single submitter
p.Gly1001= Single submitter
p.Ile835Thr Single submitter
p.Ile936Val Single submitter
p.Leu599= Single submitter

Uncertain significance 146

p.Ala698Thr Multiple submitters
p.Leu556Ser Multiple submitters ⚠
p.Thr747Ala Multiple submitters ⚠
p.Ala414Val Single submitter ⚠
p.Ala547Thr Single submitter ⚠
p.Ala653Ser Single submitter ⚠
p.Ala671Val Single submitter
p.Ala718Thr Single submitter ⚠
p.Ala768Thr Single submitter ⚠
p.Ala885Ser Single submitter ⚠
p.Ala920Asp Single submitter ⚠
p.Ala920Val Single submitter ⚠
p.Arg129Cys Single submitter ⚠
p.Arg129Ser Single submitter ⚠
p.Arg176Gln Single submitter
p.Arg217Ser Single submitter ⚠
p.Arg254Cys Single submitter ⚠
p.Arg28Ser Single submitter ⚠
p.Arg324His Single submitter ⚠
p.Arg375Ser Single submitter ⚠
p.Arg478Gln Single submitter ⚠
p.Arg485Trp Single submitter ⚠
p.Arg529Cys Single submitter
p.Arg59Gln Single submitter ⚠
p.Arg628Cys Single submitter ⚠
p.Arg694His Single submitter ⚠
p.Arg769Lys Single submitter ⚠
p.Arg861Gln Single submitter ⚠
p.Asn160Lys Single submitter ⚠
p.Asn610Ser Single submitter ⚠
p.Asn610Thr Single submitter ⚠
p.Asp557Asn Single submitter ⚠
p.Asp559His Single submitter ⚠
p.Asp601Gly Single submitter ⚠
p.Asp726Gly Single submitter ⚠
p.Asp748Gly Single submitter ⚠
p.Asp85Asn Single submitter ⚠
p.Asp879His Single submitter ⚠
p.Asp993Asn Single submitter ⚠
p.Cys511Arg Single submitter ⚠
p.Gln1055Arg Single submitter ⚠
p.Gln883Pro Single submitter ⚠
p.Gln89Glu Single submitter ⚠
p.Gln942Arg Single submitter ⚠
p.Glu121Gln Single submitter ⚠
p.Glu170Gln Single submitter ⚠
p.Glu198Val Single submitter ⚠
p.Glu21Lys Single submitter ⚠
p.Glu480Lys Single submitter ⚠
p.Glu482Gln Single submitter ⚠
p.Glu68Gly Single submitter ⚠
p.Glu737Asp Single submitter ⚠
p.Glu756Ala Single submitter ⚠
p.Glu777Gln Single submitter ⚠
p.Glu777Lys Single submitter ⚠
p.Glu790Gly Single submitter ⚠
p.Glu831Gly Single submitter ⚠
p.Glu981Lys Single submitter ⚠
p.Glu999Ala Single submitter ⚠
p.Gly1029Asp Single submitter ⚠
p.Gly216Arg Single submitter ⚠
p.Gly319Val Single submitter ⚠
p.Gly701Arg Single submitter ⚠
p.Gly814Val Single submitter ⚠
p.Gly868Arg Single submitter ⚠
p.Gly906Glu Single submitter ⚠
p.Gly965Glu Single submitter ⚠
p.His285Pro Single submitter ⚠
p.His842Gln Single submitter ⚠
p.His843Asp Single submitter ⚠
p.His865Arg Single submitter ⚠
p.His945Arg Single submitter ⚠
p.Ile1009Asn Single submitter ⚠
p.Ile349Ser Single submitter ⚠
p.Ile465Thr Single submitter ⚠
p.Ile497Met Single submitter ⚠
p.Ile627Met Single submitter
p.Ile835Val Single submitter ⚠
p.Leu205Val Single submitter ⚠
p.Leu444Phe Single submitter ⚠
p.Leu616Phe Single submitter ⚠
p.Leu637His Single submitter ⚠
p.Leu643Pro Single submitter ⚠
p.Leu801Phe Single submitter ⚠
p.Leu940Ser Single submitter ⚠
p.Lys162Gln Single submitter ⚠
p.Lys397Glu Single submitter ⚠
p.Lys472Arg Single submitter ⚠
p.Lys717Glu Single submitter ⚠
p.Lys791Met Single submitter ⚠
p.Met1067Ile Single submitter ⚠
p.Met826Val Single submitter ⚠
p.Phe286Val Single submitter ⚠
p.Phe332Leu Single submitter ⚠
p.Phe608Cys Single submitter ⚠
p.Phe642Val Single submitter ⚠
p.Phe799Ser Single submitter ⚠
p.Pro1065Ala Single submitter ⚠
p.Pro1065Thr Single submitter ⚠
p.Pro515Ser Single submitter ⚠
p.Pro525Arg Single submitter ⚠
p.Pro544Leu Single submitter ⚠
p.Pro554Ser Single submitter ⚠
p.Pro626Leu Single submitter ⚠
p.Pro634Leu Single submitter ⚠
p.Pro682Leu Single submitter ⚠
p.Pro781Ser Single submitter ⚠
p.Ser183Leu Single submitter ⚠
p.Ser420Gly Single submitter ⚠
p.Ser495Leu Single submitter ⚠
p.Ser510Leu Single submitter ⚠
p.Ser517Phe Single submitter ⚠
p.Ser545Phe Single submitter ⚠
p.Ser629Leu Single submitter ⚠
p.Ser692Arg Single submitter ⚠
p.Ser736Asn Single submitter ⚠
p.Ser800Gly Single submitter ⚠
p.Ser871Phe Single submitter ⚠
p.Ser873Trp Single submitter ⚠
p.Thr1008Arg Single submitter ⚠
p.Thr154Met Single submitter ⚠
p.Thr232Ser Single submitter ⚠
p.Thr260Ala Single submitter ⚠
p.Thr278Met Single submitter ⚠
p.Thr462Ser Single submitter ⚠
p.Thr466Asn Single submitter ⚠
p.Thr518Ile Single submitter ⚠
p.Thr63Ile Single submitter ⚠
p.Thr745Ile Single submitter ⚠
p.Thr749Ala Single submitter ⚠
p.Thr818Ala Single submitter ⚠
p.Thr828Ala Single submitter ⚠
p.Thr837Met Single submitter ⚠
p.Thr898Met Single submitter ⚠
p.Thr953Met Single submitter ⚠
p.Tyr203Ser Single submitter ⚠
p.Tyr342Asn Single submitter ⚠
p.Val214Met Single submitter ⚠
p.Val233Asp Single submitter ⚠
p.Val571Leu Single submitter ⚠
p.Val751Leu Single submitter ⚠
p.Val764Met Single submitter
p.Val815Phe Single submitter ⚠
p.Val856Met Single submitter ⚠
p.Val858Met Single submitter ⚠
p.Val913Ala Single submitter ⚠